|
Hairy Cell Leukemia
|
0.600 |
SomaticCausalMutation
|
disease |
ORPHANET |
High prevalence of MAP2K1 mutations in variant and IGHV4-34-expressing hairy-cell leukemias.
|
24241536 |
2014 |
|
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A BRAF V600E mutation was detected in 17 (77.3%) of 22 HCL cases by PCR.
|
25511147 |
2015 |
|
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The two VE1-negative HCL cases had BRAF V600 mutations proven by molecular analysis.
|
25511150 |
2015 |
|
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
As mutant BRAF alone is insufficient to drive malignant transformation in other histological cancers, it suggests that individual tumours utilise largely differing patterns of genetic somatic mutations to coalesce with BRAF V(600)E to drive pathogenesis of malignant HCLc disease.
|
26871591 |
2016 |
|
Hairy Cell Leukemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Modern approaches to the evaluation and treatment of HCL include detailed molecular analysis which informs therapeutic options, which may consist of traditional therapies such as purine nucleoside analogs, or targeted therapies with antibodies, BTK inhibitors, or BRAF inhibitors, or combination therapy.
|
26614894 |
2015 |
|
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We investigated BRAF mutations in 36 subjects with different forms of SM, but could not detect BRAF mutation in any of the cases, not even in the mast cell lineage of a patient with V600E BRAF-positive HCL.
|
25034364 |
2014 |
|
Hairy Cell Leukemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
This review summarizes current knowledge regarding the role of BRAF in lymphoid and myeloid neoplasms, with a focus on hairy-cell leukemia, Langerhans cell histiocytosis, and Erdheim-Chester disease.
|
24495477 |
2015 |
|
Hairy Cell Leukemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
BRAF inhibitors reverse the unique molecular signature and phenotype of hairy cell leukemia and exert potent antileukemic activity.
|
25480661 |
2015 |
|
Hairy Cell Leukemia
|
0.600 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, high resolution melting with confirmatory Sanger sequencing are useful methods that can be employed in routine diagnostic laboratories to detect BRAF mutations in patients with hairy cell leukemia and related lymphoproliferative disorders.
|
22133769 |
2012 |
|
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Identification of the BRAF-V600E kinase mutation as the genetic cause of HCL has opened the way, in the relapsed/refractory experimental setting, to targeted and non-myelotoxic effective strategies that are based on inhibition of BRAF with vemurafenib, co-inhibition of BRAF and its target MEK with dabrafenib and trametinib, and BRAF inhibition with vemurafenib combined with anti-CD20 immunotherapy.
|
31187521 |
2019 |
|
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The thymidine kinase inhibitor vemurafenib, which inhibits the V600E mutant of BRAF, was reported to induce a CR in multiply relapsed and refractory HCL, with nearly complete clearing of MRD.
|
23892906 |
2013 |
|
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We compared the ability of Sanger sequencing, fluorescent single-strand conformational polymorphism (F-SSCP) and high resolution melting (HRM) analysis to detect BRAF mutations in 20 cases of HCL consisting of four archival Romanowsky stained air-dried peripheral blood and bone marrow aspirate smears, 12 mercury fixed decalcified bone marrow trephine biopsies, three formalin fixed, paraffin embedded (FFPE) splenectomy samples and one fresh peripheral blood sample.
|
25938346 |
2015 |
|
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In contrast with the classic form, variant hairy cell leukemia (HCLv) responds poorly to single-agent purine analogs, expresses unmutated BRAF, has shorter overall survival, and lacks effective standard therapy.
|
24277451 |
2013 |
|
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The detection of BRAF V600E by IHC is useful in the distinction of HCLs from other splenic-based lymphomas, although the identification of at least rare SMZLs containing this abnormality illustrates the continuing need for a multiparameter approach to diagnosis.
|
26071465 |
2015 |
|
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
BRAF mutation is seen in melanoma, papillary thyroid carcinoma (including papillary thyroid carcinoma arising from ovarian teratoma), ovarian serous tumours, colorectal carcinoma, gliomas, hepatobiliary carcinomas and hairy cell leukaemia.
|
23594689 |
2013 |
|
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Discovery of the BRAF V600E mutation as a disease-defining genetic event in hairy cell leukemia can be helpful in both differential diagnosis and treatment of this disease.
|
24789721 |
2014 |
|
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Moreover, our pyrosequencing-based assay provides a convenient, rapid, sensitive, and quantitative tool for the detection of BRAF p.V600E mutations in HCL for clinical diagnostic testing.
|
22706871 |
2012 |
|
Hairy Cell Leukemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
A better understanding of any potential association between HCL and skin cancer is highly relevant given ongoing trials using BRAF inhibitors, such as vemurafenib, for relapsed HCL, as RAS-mutant skin cancers could be paradoxically activated in these patients.
|
26115047 |
2015 |
|
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
HCL variant and the IGHV4-34 molecular variant of HCL lack BRAF mutation and have inferior outcomes with standard purine analogue therapy.
|
28146266 |
2017 |
|
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Cell lines originating from HCL patients lack BRAF mutations but retain the typical piliferous morphology and the distinctive HCL immunophenotype, thus, constituting suitable tools for identifying alternative tumor genes and leukemic mechanisms in this malignancy.
|
25960206 |
2015 |
|
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström macroglobulinemia, the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified, and the Y640F//D661Y/V/H/I//N647I STAT3 mutations in T-cell large granular lymphocytic leukemia.
|
24689848 |
2014 |
|
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our results confirm that BRAF V600E-positive HCL is a relatively rare disorder in the Japanese leukemia patient population.
|
30043333 |
2018 |
|
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
BRAF-V600E was detected at different time points during the disease course, even after therapy, pointing to its pivotal role in HCL pathogenesis and maintenance of the leukemic clone.
|
22028477 |
2012 |
|
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Sensitive molecular assays for detecting BRAF V600E allow HCL (highly responsive to purine analogs) to be better distinguished from HCL-like disorders, which are treated differently.
|
27554081 |
2016 |